MCID: APH010
MIFTS: 43

Aphakia, Congenital Primary malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Aphakia, Congenital Primary

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Aphakia, Congenital Primary:

Name: Aphakia, Congenital Primary 51 11 47 69 12
Congenital Primary Aphakia 47 24 53 69 26
Congenital Aphakia 11 13
 
Cpa 47 69
Congenital Absence of Lens 11
Aphakia 38

Characteristics:

Orphanet epidemiological data:

53
congenital primary aphakia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

63
aphakia, congenital primary:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 610256
Disease Ontology11 DOID:11367
ICD1029 Q12.3, H27.0
ICD9CM31 743.35
NCIt44 C35172
Orphanet53 ORPHA83461
SNOMED-CT61 35387008
ICD10 via Orphanet30 Q12.3
MESH via Orphanet39 C537786
UMLS via Orphanet68 C1853230
MedGen36 C1853230
MeSH38 D001035

Summaries for Aphakia, Congenital Primary

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UniProtKB/Swiss-Prot:69 Congenital primary aphakia: Aphakia is a rare congenital eye disorder in which the lens is missing. It has been histologically subdivided into primary and secondary forms, in accordance with the severity of defects of the ocular tissues, whose development requires the initial presence of a lens. CPA results from an early developmental arrest, around the 4th- 5th week of gestation in humans, that prevents the formation of any lens structure and leads to severe secondary ocular defects, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less-severe ocular defects.

MalaCards based summary: Aphakia, Congenital Primary, also known as congenital primary aphakia, is related to peters anomaly and aspergillosis, and has symptoms including Array, Array and Array. An important gene associated with Aphakia, Congenital Primary is FOXE3 (Forkhead Box E3), and among its related pathways are Cardiac Progenitor Differentiation and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

NIH Rare Diseases:47 Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion.Click here to view a diagram of the eye. Last updated: 9/7/2011

Description from OMIM:51 610256

Related Diseases for Aphakia, Congenital Primary

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Graphical network of the top 20 diseases related to Aphakia, Congenital Primary:



Diseases related to aphakia, congenital primary

Symptoms for Aphakia, Congenital Primary

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Symptoms by clinical synopsis from OMIM:

610256

Clinical features from OMIM:

610256

Human phenotypes related to Aphakia, Congenital Primary:

 53 63 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of vision53 Frequent (79-30%)
2 microphthalmia63 53 Very frequent (99-80%) HP:0000568
3 sclerocornea63 53 Frequent (79-30%) HP:0000647
4 congenital primary aphakia63 53 Very frequent (99-80%) HP:0007707
5 retinal dysplasia53 Frequent (79-30%)
6 aplasia/hypoplasia affecting the anterior segment of the eye53 Very frequent (99-80%)
7 aniridia63 HP:0000526
8 anterior segment of eye aplasia63 HP:0007779

Drugs & Therapeutics for Aphakia, Congenital Primary

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Drugs for Aphakia, Congenital Primary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DipivefrinapprovedPhase 39452365-63-63105
Synonyms:
( -)-2,2-Dimethylpropansaeure-4-(1-hydroxy-2-(methylamino)ethyl)-1,2-phenylenester
( -)-4-(1-Hydroxy-2-methylaminoethyl)-o-phenylendipivalat
(+-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol 3,4-dipivalate
(+-)-4-[1-Hydroxy-2-(methylamino)ethyl]-O-phenylene divavalate
(+-)-4-[1-hydroxy-2-(methylamino)ethyl]-o-phenylene divavalate
(RS)-4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-phenylen dipivalat
1-(3',4'-Dipivaloyloxyphenyl)-2-methylamino-1-ethanol
1-(3',4'-dipivaloyloxyphenyl)-2-methylamino-1-ethanol
2,2-Dimethylpropanoic acid 4-[1-hydroxy-2-(methylamino)ethyl]-1,2-phenylene ester
4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-phenylen dipivalat
4-[1-Hydroxy-2-(methylamino)ethyl]-O-phenylene divavalate
4-[1-hydroxy-2-(methylamino)ethyl]-o-phenylene divavalate
4-[1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diyl bis(2,2-dimethylpropanoate)
52365-63-6
AB00514686
AC1L1F6K
AKOS003662293
AKPro
BPBio1_000688
BRD-A47494775-003-03-0
BSPBio_000624
C06963
C19H29NO5
CHEBI:4646
CID3105
D02349
DB00449
Dipivalyl Epinephrine
 
Dipivefrin
Dipivefrin (USAN)
Dipivefrin HCL
Dipivefrin [USAN]
Dipivefrina
Dipivefrina [INN-Spanish]
Dipivefrine
Dipivefrine (INN)
Dipivefrinum
Dipivefrinum [INN-Latin]
Dipivéfrine
K 30081
L000915
LS-121419
NCGC00179499-01
Ophtho-Dipivefrin
Prestwick0_000632
Prestwick1_000632
Prestwick2_000632
Prestwick3_000632
Pro-Epinephrine
Propine
Propine C Cap B.I.D.
SPBio_002843
UNII-8Q1PVL543G
[2-(2,2-dimethylpropanoyloxy)-4-[1-hydroxy-2-(methylamino)ethyl]phenyl] 2,2-dimethylpropanoate
dipivalyl epinephrine
dipivefrin
nchembio747-comp3
2
Hyaluronic acidapproved, vet_approvedPhase 34399004-61-953477741, 24759
Synonyms:
Hyaluronan
Hyaluronate
Hyaluronic acid
Hylartil
Hyruan Plus
Luronit
 
Macronan
Mucoitin
Nutra-HAF
Q 5AQ
Sepracoat
Sepragel Sinus
Sofast
Synvisc
3ViscosupplementsPhase 3364
4Protective AgentsPhase 37190
5Adjuvants, ImmunologicPhase 32484

Interventional clinical trials:

(show all 24)
idNameStatusNCT IDPhase
1Aphakia Versus Pseudophakia in Children Under 2 Years Undergoing Bilateral Congenital Cataract SurgeryCompletedNCT01297153Phase 4
2Evaluation of the Tecnis™ Multifocal and Crystalens™ Accommodating Intraocular LensesCompletedNCT01061281Phase 4
3Co-Axial Micro-Incision Versus Co-Axial Small Incision Cataract Surgery Using the Stellaris Enhancement SystemCompletedNCT01261975Phase 4
4Evaluation of the Safety & Effectiveness of the Bausch & Lomb AKREOS® TL Intraocular LensCompletedNCT00838045Phase 4
5Safety and Effectiveness of the Akreos Toric Intraocular Lens.CompletedNCT00825513Phase 4
6Prospective Evaluation of Visual Outcomes With Tecnis One-Piece Multifocal Intraocular Lenses Compared With Patients Previously Implanted With Crystalens Aspheric Optic (AO)CompletedNCT01191229Phase 4
7Visual and Refractive Outcomes After Implantation of Aspheric IOLs With Different Dioptric Increments and ManufacturingTerminatedNCT01249144Phase 4
8Night Driving PilotWithdrawnNCT00876278Phase 4
9Infant Aphakia Treatment Study (IATS)CompletedNCT00212134Phase 3
10One-Piece Hydrophobic Acrylic Intraocular Lens in Subjects Undergoing Cataract ExtractionCompletedNCT01230060Phase 3
11EYEFILL® C. -US Viscoelastic Clinical InvestigationCompletedNCT02024711Phase 3
12Artisan Aphakia Lens for the Correction of Aphakia (Secondary) in AdultsRecruitingNCT01547429Phase 3
13Artisan Aphakia Lens for the Correction of Aphakia in ChildrenRecruitingNCT01547442Phase 3
14Evaluate Capsular Apposition to Intraocular LensUnknown statusNCT01605812
15Clinical Study of a UV-Absorbing Acrylic Posterior Chamber Intraocular LensCompletedNCT00625313
16Visual Quality Following Aspheric Intraocular Lens (IOL) Implantation - a Comparative Clinical StudyCompletedNCT01544777
17Intraocular Position of Secondary Iris-Fixated IOLs in Aphakic EyesCompletedNCT00773266
18Comparison of the Hoya Surgical Optics (HSO) iSert 251 Posterior Chamber Aspheric Aphakic Intraocular Lens to Historical / Literature Controls.CompletedNCT01292629
19Comparison of Aspheric Toric & Non-toric Aphakic Intraocular LensesCompletedNCT01268540
20Accuracy of Holladay 2 Formula in the Absence of Lens ThicknessCompletedNCT01846078
21Acrysof Toric SN60T3corneal Astigmatism Between 0.75 and 1.00 D.CompletedNCT00542581
22Evaluation Study for a Non-Contact BiometerCompletedNCT00494390
23Clinical Trial With PRECIZON PresbyopicRecruitingNCT02409771
24A Multi Focal Visual Outcome Study Using Different Near AdditionsTerminatedNCT00960700

Search NIH Clinical Center for Aphakia, Congenital Primary


Cochrane evidence based reviews: aphakia

Genetic Tests for Aphakia, Congenital Primary

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Genetic tests related to Aphakia, Congenital Primary:

id Genetic test Affiliating Genes
1 Aphakia, Congenital Primary26
2 Congenital Primary Aphakia24 FOXE3

Anatomical Context for Aphakia, Congenital Primary

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MalaCards organs/tissues related to Aphakia, Congenital Primary:

35
Eye

Animal Models for Aphakia, Congenital Primary or affiliated genes

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MGI Mouse Phenotypes related to Aphakia, Congenital Primary:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539410.0OTX2, PAX6, SOX2
2MP:00053779.4OTX2, PAX2, PAX6, SOX2
3MP:00053889.2HMOX2, OTX2, PAX6, PITX3, SOX2
4MP:00011869.1OTX2, PAX2, PAX6, PITX3, SOX2
5MP:00053819.1HMOX2, OTX2, PAX6, PDYN, SOX2
6MP:00053918.0CRYGB, OTX2, PAX2, PAX6, PITX3, SOX2

Publications for Aphakia, Congenital Primary

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Variations for Aphakia, Congenital Primary

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UniProtKB/Swiss-Prot genetic disease variations for Aphakia, Congenital Primary:

69
id Symbol AA change Variation ID SNP ID
1FOXE3p.Arg90LeuVAR_062584rs371048362
2FOXE3p.Arg120GlyVAR_072783

Clinvar genetic disease variations for Aphakia, Congenital Primary:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FOXE3NM_012186.2(FOXE3): c.720C> A (p.Cys240Ter)SNVPathogenicrs80358194GRCh37Chr 1, 47882707: 47882707

Expression for genes affiliated with Aphakia, Congenital Primary

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Search GEO for disease gene expression data for Aphakia, Congenital Primary.

Pathways for genes affiliated with Aphakia, Congenital Primary

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GO Terms for genes affiliated with Aphakia, Congenital Primary

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Cellular components related to Aphakia, Congenital Primary according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.7FOXE3, HDAC9, SOX2
2nucleusGO:00056346.5CRYGB, FOXE3, HDAC9, OPTN, OTX2, PAX2

Biological processes related to Aphakia, Congenital Primary according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1cornea development in camera-type eyeGO:006130310.5FOXE3, PAX6
2iris morphogenesisGO:006107210.5FOXE3, PAX6
3pituitary gland developmentGO:002198310.1PAX6, SOX2
4dopaminergic neuron differentiationGO:007154210.1OTX2, PITX3
5midbrain developmentGO:003090110.1OTX2, PITX3
6eye developmentGO:00016549.9FOXE3, PAX6, SOX2
7cell fate determinationGO:00017099.8PAX2, PAX6
8camera-type eye developmentGO:00430109.7FOXE3, PAX2, PAX6
9lens development in camera-type eyeGO:00020889.7CRYGB, FOXE3, PAX6, PITX3
10visual perceptionGO:00076019.4CRYGB, PAX2, PAX6
11regulation of gene expressionGO:00104689.3PAX6, PITX3, SOX2
12forebrain developmentGO:00309009.1OTX2, PAX6, SOX2
13positive regulation of transcription, DNA-templatedGO:00458938.6OTX2, PAX2, PAX6, PITX3, SOX2
14transcription from RNA polymerase II promoterGO:00063668.4FOXE3, OTX2, PAX2, PAX6, PITX3, SOX2
15positive regulation of transcription from RNA polymerase II promoterGO:00459448.3OTX2, PAX2, PAX6, PITX3, SOX2

Molecular functions related to Aphakia, Congenital Primary according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.0PAX2, PAX6, SOX2
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.9OTX2, PAX6, PITX3, SOX2

Sources for Aphakia, Congenital Primary

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet